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Partial Monosomy 11q
Partial Deletion of Chromosome 11q

Presentation

The numbered bands specify the location of the thousands of genes that are present on each chromosome. [rarediseases.org]

The patient presented with growth retardation, hypotonia, trigonocephaly, telecanthus, downward slanting palpebral fissures, bilateral inferior colobomas (of the iris, choroid, and retina), hydrocephalus, central nervous system (CNS) abnormalities, and [ncbi.nlm.nih.gov]

Gastrointestinal

  • Failure to Thrive

    […] to thrive Fetal growth restriction IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. [ncbi.nlm.nih.gov]

    Symptoms associated with cardiac failure may include an abnormally rapid rate of breathing (tachypnea), wheezing, unusually fast heartbeat (tachycardia), and/or failure to grow at the expected rate (failure to thrive). [rarediseases.org]

  • Vomiting

    Pyloric stenosis can cause affected individuals to vomit forcefully and may result in dehydration, a problem that is observed in the neonatal period. Children with Jacobsen syndrome often suffer from chronic constipation. [rarediseases.org]

Musculoskeletal

  • Short Arm

    Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. [rarediseases.org]

Treatment

Standard Therapies Treatment The treatment of partial monosomy 11q is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Prevention

Left-sided obstructive lesions are defects that prevent the adequate blood flow from the heart. [rarediseases.org]

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